@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP681960.RAtvc69HQnNaVBU3UI_flxZJzEaLVRu9ZRNsB8OEiL-W8
> .
@prefix rdfs: <
http://www.w3.org/2000/01/rdf-schema#
> .
@prefix xsd: <
http://www.w3.org/2001/XMLSchema#
> .
@prefix sio: <
http://semanticscience.org/resource/
> .
@prefix ncit: <
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#
> .
@prefix lld: <
http://linkedlifedata.com/resource/umls/id/
> .
@prefix miriam-gene: <
http://identifiers.org/ncbigene/
> .
@prefix miriam-pubmed: <
http://identifiers.org/pubmed/
> .
@prefix eco: <
http://purl.obolibrary.org/obo/
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/
> .
@prefix prv: <
http://purl.org/net/provenance/ns#
> .
@prefix dcterms: <
http://purl.org/dc/terms/
> .
@prefix np: <
http://www.nanopub.org/nschema#
> .
@prefix dgn-np: <
http://rdf.disgenet.org/resource/nanopub/
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/resource/gda/
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v3.0.0/void/
> .
dgn-np:NP681960.RAtvc69HQnNaVBU3UI_flxZJzEaLVRu9ZRNsB8OEiL-W8130_head
{
this:
np:hasAssertion
dgn-np:NP681960.RAtvc69HQnNaVBU3UI_flxZJzEaLVRu9ZRNsB8OEiL-W8130_assertion
;
np:hasProvenance
dgn-np:NP681960.RAtvc69HQnNaVBU3UI_flxZJzEaLVRu9ZRNsB8OEiL-W8130_provenance
;
np:hasPublicationInfo
dgn-np:NP681960.RAtvc69HQnNaVBU3UI_flxZJzEaLVRu9ZRNsB8OEiL-W8130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP681960.RAtvc69HQnNaVBU3UI_flxZJzEaLVRu9ZRNsB8OEiL-W8130_assertion
a
np:Assertion
.
dgn-np:NP681960.RAtvc69HQnNaVBU3UI_flxZJzEaLVRu9ZRNsB8OEiL-W8130_provenance
a
np:Provenance
.
dgn-np:NP681960.RAtvc69HQnNaVBU3UI_flxZJzEaLVRu9ZRNsB8OEiL-W8130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP681960.RAtvc69HQnNaVBU3UI_flxZJzEaLVRu9ZRNsB8OEiL-W8130_assertion
{
miriam-gene:6315
a
ncit:C16612
.
lld:C0004134
a
ncit:C7057
.
dgn-gda:DGN9ce26ed21652a376ac5aa1a8316ffe6f
sio:SIO_000628
miriam-gene:6315
,
lld:C0004134
;
a
sio:SIO_001121
.
}
dgn-np:NP681960.RAtvc69HQnNaVBU3UI_flxZJzEaLVRu9ZRNsB8OEiL-W8130_provenance
{
dgn-np:NP681960.RAtvc69HQnNaVBU3UI_flxZJzEaLVRu9ZRNsB8OEiL-W8130_assertion
dcterms:description
"[Our finding that SCA8 expansions on three independently arising haplotypes are found among patients with ataxia and cosegregate with ataxia when multiple family members are affected further supports the direct role of the CTG expansion in disease pathogenesis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
dgn-void:source_evidence_literature
;
sio:SIO_000772
miriam-pubmed:15152344
;
prov:wasDerivedFrom
dgn-void:befree-20150227
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20150227
pav:importedOn
"2015-02-27"^^
xsd:date
.
dgn-void:source_evidence_literature
a
eco:ECO_0000212
;
rdfs:comment
"Gene-disease associations inferred from text-mining the literature."@en ;
rdfs:label
"DisGeNET evidence - LITERATURE"@en .
}
dgn-np:NP681960.RAtvc69HQnNaVBU3UI_flxZJzEaLVRu9ZRNsB8OEiL-W8130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:44:31+02:00"^^
xsd:dateTime
;
dcterms:rights
<
http://opendatacommons.org/licenses/odbl/1.0/
> ;
dcterms:rightsHolder
dgn-void:IBIGroup
;
dcterms:subject
sio:SIO_000983
;
prv:usedData
dgn-void:disgenetv3.0rdf
;
pav:authoredBy
<
http://orcid.org/0000-0001-5999-6269
> , <
http://orcid.org/0000-0002-7534-7661
> , <
http://orcid.org/0000-0002-9383-528X
> , <
http://orcid.org/0000-0003-0169-8159
> , <
http://orcid.org/0000-0003-1244-7654
> ;
pav:createdBy
<
http://orcid.org/0000-0003-0169-8159
> ;
pav:version
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}